Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849156
Disease: Spastic Ataxia
Spastic Ataxia
0.020 GeneticVariation disease BEFREE Here we report the clinical, genetic, and neuropathological findings in a homozygous Ala510Val SPG7 case with spastic ataxia. 26506339 2015
CUI: C1849156
Disease: Spastic Ataxia
Spastic Ataxia
0.020 GeneticVariation disease BEFREE In conclusion, the SPG7 gene should be screened in patients in whom a disorder of mitochondrial DNA maintenance is suspected when spastic ataxia is prominent. 24727571 2014